Canonical Allele Identifier: CA9604611

Gene: KLK3

Linked Data

• ClinVar Variation Id: 2224976
• ClinVar RCV Id: RCV004088821
• dbSNP Id: rs200006942
• ExAC: 19:51363369 G / T
• gnomAD v2: 19-51363369-G-T
• gnomAD v4: 19-50860113-G-T
• MyVariant Identifiers: chr19:g.51363369G>T (hg19) ; chr19:g.50860113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50860113G>T , CM000681.2:g.50860113G>T	GRCh38
NC_000019.9:g.51363369G>T , CM000681.1:g.51363369G>T	GRCh37
NC_000019.8:g.56055181G>T	NCBI36
NG_011653.1:g.10199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326003.7:c.772G>T MANE Select	ENSP00000314151.1:p.Val258Leu
ENST00000326003.6:c.772G>T	ENSP00000314151.1:p.Val258Leu
ENST00000360617.7:c.1214G>T	ENSP00000353829.2:n.1214G>T
ENST00000422986.6:c.*428G>T	ENSP00000393628.2:n.*428G>T
ENST00000595392.5:c.*273G>T	ENSP00000468912.1:n.*273G>T
ENST00000595952.5:c.643G>T	ENSP00000471155.1:p.Val215Leu
ENST00000596333.1:n.950G>T
ENST00000598145.1:c.774G>T
ENST00000601349.5:n.2051G>T
ENST00000601812.1:n.1204G>T
ENST00000617027.4:c.649G>T	ENSP00000483513.1:p.Val217Leu
NM_001030047.1:c.*497G>T	NP_001025218.1:n.*497G>T
NM_001030048.1:c.643G>T	NP_001025219.1:p.Val215Leu
NM_001648.2:c.772G>T MANE Select	NP_001639.1:p.Val258Leu
XM_011526923.1:c.790G>T	XP_011525225.1:p.Val264Leu
XR_935817.1:n.1324+859G>T